Osteogenesis imperfecta

This code represents osteogenesis imperfecta (OI), a rare genetic disorder characterized by brittle bones that fracture easily, often with little or no trauma. It results from defects in collagen production, leading to weakened connective tissue throughout the body. The severity of OI varies widely, from mild forms with few fractures to severe forms causing multiple fractures, bone deformities, and other systemic complications.

Use this code for patients diagnosed with any type of osteogenesis imperfecta. This diagnosis is typically supported by clinical findings of recurrent fractures, blue sclerae, dentinogenesis imperfecta, hearing loss, and family history, often confirmed by genetic testing. Documentation should clearly state the diagnosis of osteogenesis imperfecta.

• Do not confuse this with other bone fragility disorders like osteoporosis, which has a different etiology and code set.
• Always code any associated fractures or other manifestations (e.g., hearing loss, dentinogenesis imperfecta) separately as secondary diagnoses.
• Review documentation for specific types of OI (e.g., Type I, Type II, etc.) as future ICD-10-CM updates may introduce more specific codes.